Variant report

Variant	rs7958866
Chromosome Location	chr12:67821710-67821711
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67820987..67823729-chr12:67825470..67827435,2	K562	blood:
2	chr12:67820626..67824224-chr12:68042054..68045159,3	MCF-7	breast:
3	chr12:67820987..67824264-chr12:67824816..67827435,5	K562	blood:

Variant related genes	Relation type
ENSG00000127334	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10506549	0.85[CEU][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10878616	0.85[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11176738	0.84[ASN][1000 genomes]
rs11176739	0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs11176744	0.84[ASN][1000 genomes]
rs12828359	1.00[CEU][hapmap];0.81[CHB][hapmap];0.94[CHD][hapmap];0.92[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1882033	0.83[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1882280	0.89[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1882282	0.85[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1882283	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1920430	0.85[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35583684	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4913247	0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs4913248	0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs4913249	0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs4913323	0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs4913324	0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs67939426	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7132295	0.84[ASN][1000 genomes]
rs7132301	0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs7298082	0.84[ASN][1000 genomes]
rs7312115	0.83[ASN][1000 genomes]
rs7312371	0.84[ASN][1000 genomes]
rs7312608	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7958866	TBK1	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67809200-67824000	Weak transcription	Psoas Muscle	Psoas
2	chr12:67817800-67830600	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr12:67818600-67822400	Enhancers	Stomach Mucosa	stomach
4	chr12:67818600-67823000	Enhancers	Duodenum Mucosa	Duodenum
5	chr12:67818600-67827000	Enhancers	Fetal Intestine Small	intestine
6	chr12:67818600-67832000	Enhancers	Fetal Intestine Large	intestine
7	chr12:67818800-67823000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:67819000-67821800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:67819600-67822000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr12:67819600-67822200	Weak transcription	Placenta	Placenta
11	chr12:67819600-67825400	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr12:67819600-67831400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:67819800-67822200	Enhancers	Fetal Stomach	stomach
14	chr12:67819800-67822400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:67820000-67822000	Weak transcription	HMEC	breast
16	chr12:67820000-67823200	Weak transcription	Aorta	Aorta
17	chr12:67820000-67828600	Weak transcription	Pancreas	Pancrea
18	chr12:67820000-67828800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:67820200-67822000	Enhancers	HepG2	liver
20	chr12:67820200-67822200	Enhancers	Small Intestine	intestine
21	chr12:67820200-67824000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr12:67820200-67824000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr12:67820200-67829000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:67820400-67821800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:67820400-67824200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:67820600-67821800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:67820600-67822000	Weak transcription	NHLF	lung
28	chr12:67820600-67823400	Weak transcription	Fetal Kidney	kidney
29	chr12:67820600-67824000	Weak transcription	Fetal Lung	lung
30	chr12:67820600-67824000	Weak transcription	NHDF-Ad	bronchial
31	chr12:67820600-67824200	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:67820600-67824600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:67820600-67824800	Weak transcription	Fetal Heart	heart
34	chr12:67820600-67825200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr12:67820800-67822200	Enhancers	HSMMtube	muscle
36	chr12:67821000-67821800	Enhancers	Brain Hippocampus Middle	brain
37	chr12:67821000-67822200	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr12:67821000-67822800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:67821000-67823000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:67821000-67824200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr12:67821000-67826000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:67821200-67822000	Enhancers	Colonic Mucosa	Colon
43	chr12:67821400-67821800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:67821400-67821800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:67821400-67823000	Enhancers	NHEK	skin
46	chr12:67821400-67830600	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr12:67821600-67822000	Enhancers	GM12878-XiMat	blood

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